Article
Identification of p38 MAPK and JNK as new targets for correction of Wilson disease-causing ATP7B mutants.
Hepatology (Baltimore, Md.) - 1 Jun 2016
Chesi Giancarlo, Hegde Ramanath N, Iacobacci Simona, Concilli Mafalda, Parashuraman Seetharaman, Festa Beatrice Paola, Polishchuk Elena V, Di Tullio Giuseppe, Carissimo Annamaria, Montefusco Sandro, Canetti Diana, Monti Maria, Amoresano Angela, Pucci Piero, van de Sluis Bart, Lutsenko Svetlana, Luini Alberto, Polishchuk Roman S
Abstract excerpt
UNLABELLED: Wilson disease (WD) is an autosomal recessive disorder that is caused by the toxic accumulation of copper (Cu) in the liver. The ATP7B gene, which is mutated in WD, encodes a multitransmembrane domain adenosine triphosphatase that traffics from the trans-Golgi network to the canalicular area of hepatocytes, where it facilitates excretion of excess Cu into the bile. Several ATP7B mutations, including...
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